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Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression.

作者信息

Labauge Pierre, Roullet Etienne, Boespflug-Tanguy Odile, Nicoli François, Le Fur Yann, Cozzone Patrick J, Ducreux Denis, Rodriguez Diana

出版信息

Eur Neurol. 2007;58(1):59-61. doi: 10.1159/000102171. Epub 2007 May 4.

DOI:10.1159/000102171
PMID:17483590
Abstract
摘要

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Clin Neuroradiol. 2014 Sep;24(3):297-300. doi: 10.1007/s00062-013-0250-x. Epub 2013 Sep 5.
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Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.具有广泛的 Leigh 综合征样线粒体脑肌病（LBSL）磁共振成像（MRI）表现和 DARS2 基因突变的临床无症状成年患者。
J Neurol. 2011 Feb;258(2):335-7. doi: 10.1007/s00415-010-5755-5. Epub 2010 Sep 29.
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MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.成年起病的伴有自主神经症状的常染色体显性遗传性脑白质营养不良脊髓的磁共振成像特征及神经病理学表现
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Curr Neurol Neurosci Rep. 2008 May;8(3):217-29. doi: 10.1007/s11910-008-0034-x.